A63G (p.Ala63Gly) variant of CD8A (P01732)
A63G (p.Ala63Gly) in CD8A (P01732) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Susceptibility to respiratory infections associated with CD8alpha chain mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
A63G (p.Ala63Gly) variant details
- p.Ala63Gly
- rs537395900
- ClinGen CA1751255
- ClinVar RCV001336402
- 1000Genomes rs537395900
- Conflicting interpretations
- Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.091
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.02
- CADD 4.75
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Susceptibility to respiratory infections associated with CD8alph)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)